Mutagenetix > Incidental Mutation

Incidental Mutation 'R5570:Pdk2'

435624

Institutional Source

Beutler Lab

Gene Symbol

Pdk2

Ensembl Gene

ENSMUSG00000038967

Gene Name

pyruvate dehydrogenase kinase, isoenzyme 2

Synonyms

MMRRC Submission

043127-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5570 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

94917084-94932180 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 94920826 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 175 (I175N)

Ref Sequence

ENSEMBL: ENSMUSP00000041447 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038431] [ENSMUST00000055947]

AlphaFold

Q9JK42

Predicted Effect

probably damaging
Transcript: ENSMUST00000038431
AA Change: I175N

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000041447
Gene: ENSMUSG00000038967
AA Change: I175N

Domain	Start	End	E-Value	Type
Pfam:BCDHK_Adom3	30	192	3.8e-52	PFAM
HATPase_c	240	364	9.32e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000055947

SMART Domains

Protein: ENSMUSP00000062231
Gene: ENSMUSG00000047181

Domain	Start	End	E-Value	Type
low complexity region	42	57	N/A	INTRINSIC
low complexity region	138	153	N/A	INTRINSIC
low complexity region	244	260	N/A	INTRINSIC
low complexity region	276	289	N/A	INTRINSIC
SAM	323	389	7.96e-12	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126730

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129262

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138855

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141712

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155857

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the pyruvate dehydrogenase kinase family. The encoded protein phosphorylates pyruvate dehydrogenase, down-regulating the activity of the mitochondrial pyruvate dehydrogenase complex. Overexpression of this gene may play a role in both cancer and diabetes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased muscle contractile force. [provided by MGI curators]

Allele List at MGI

none

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acrv1	C	A	9: 36,605,577 (GRCm39)	S41R	probably damaging	Het
Aqr	G	A	2: 113,979,451 (GRCm39)	T328M	probably damaging	Het
Arhgap26	C	A	18: 39,232,671 (GRCm39)	D99E	probably damaging	Het
Boc	G	A	16: 44,313,187 (GRCm39)	T559I	probably damaging	Het
Cadps	A	T	14: 12,473,497 (GRCm38)	I876N	possibly damaging	Het
Cep72	T	C	13: 74,188,260 (GRCm39)	Q211R	probably benign	Het
Clmp	T	C	9: 40,683,826 (GRCm39)		probably null	Het
Coq6	T	A	12: 84,415,413 (GRCm39)	D145E	probably benign	Het
Crym	T	C	7: 119,801,116 (GRCm39)	E11G	probably benign	Het
Defb36	T	A	2: 152,454,503 (GRCm39)	V54E	probably damaging	Het
Dlg5	C	A	14: 24,242,981 (GRCm39)	E55*	probably null	Het
Dock2	G	T	11: 34,618,233 (GRCm39)	R128S	probably damaging	Het
E330034G19Rik	A	G	14: 24,346,892 (GRCm39)	K60E	possibly damaging	Het
Eps8l2	G	A	7: 140,934,920 (GRCm39)	R76Q	possibly damaging	Het
Espn	T	C	4: 152,208,237 (GRCm39)	E460G	probably damaging	Het
Fbxl18	A	G	5: 142,881,022 (GRCm39)		probably benign	Het
Fgd5	T	C	6: 91,965,668 (GRCm39)	S476P	probably damaging	Het
Gsto1	T	C	19: 47,846,338 (GRCm39)	W62R	probably damaging	Het
Gtf2h3	C	T	5: 124,722,360 (GRCm39)	T121I	probably benign	Het
Gxylt1	A	G	15: 93,152,180 (GRCm39)		probably null	Het
Hs6st1	C	T	1: 36,142,719 (GRCm39)	P218L	probably benign	Het
Kif5c	A	G	2: 49,620,211 (GRCm39)	D226G	possibly damaging	Het
Krt1	A	G	15: 101,755,340 (GRCm39)	F473S	probably benign	Het
Lpxn	T	A	19: 12,810,023 (GRCm39)	M265K	possibly damaging	Het
Map3k9	A	G	12: 81,778,798 (GRCm39)	L505P	possibly damaging	Het
Mcm3ap	C	T	10: 76,316,930 (GRCm39)	R645W	possibly damaging	Het
Msr1	T	C	8: 40,064,760 (GRCm39)	I305V	probably benign	Het
Muc4	A	G	16: 32,598,066 (GRCm39)	E3237G	possibly damaging	Het
Necap1	T	C	6: 122,858,471 (GRCm39)	F105L	probably damaging	Het
Nploc4	C	T	11: 120,275,440 (GRCm39)	V499M	probably benign	Het
Nup93	T	C	8: 95,041,298 (GRCm39)	V812A	probably damaging	Het
Or10ak7	T	A	4: 118,791,263 (GRCm39)	I259F	possibly damaging	Het
Or6e1	A	G	14: 54,519,825 (GRCm39)	F176L	probably damaging	Het
Or9g3	G	A	2: 85,589,994 (GRCm39)	S242F	probably damaging	Het
Parn	G	A	16: 13,483,794 (GRCm39)	P50L	probably damaging	Het
Pcdhb7	T	C	18: 37,477,224 (GRCm39)	C787R	probably benign	Het
Pelo	T	C	13: 115,226,152 (GRCm39)	I102V	probably benign	Het
Phf12	A	G	11: 77,908,937 (GRCm39)	D339G	possibly damaging	Het
Phlpp1	A	T	1: 106,101,162 (GRCm39)	I477F	probably benign	Het
Pigt	T	A	2: 164,343,482 (GRCm39)	Y319*	probably null	Het
Pmpca	A	G	2: 26,280,553 (GRCm39)	E133G	probably damaging	Het
Ptgs2	A	G	1: 149,979,859 (GRCm39)	I321M		Het
Pus7l	G	A	15: 94,425,746 (GRCm39)	P552S	probably benign	Het
Qsox2	A	G	2: 26,115,230 (GRCm39)	M1T	probably null	Het
Rara	C	G	11: 98,863,478 (GRCm39)	R382G	probably damaging	Het
Rbbp6	A	G	7: 122,601,057 (GRCm39)		probably benign	Het
Rev3l	T	C	10: 39,728,071 (GRCm39)		probably null	Het
Robo3	T	A	9: 37,336,571 (GRCm39)	Y399F	possibly damaging	Het
Rpl31	C	T	1: 39,409,108 (GRCm39)	R41C	probably benign	Het
Skint3	A	G	4: 112,092,995 (GRCm39)	M20V	probably benign	Het
Slc17a6	A	G	7: 51,308,504 (GRCm39)	D276G	probably benign	Het
Sult3a2	A	T	10: 33,654,268 (GRCm39)	V128D	probably damaging	Het
Syt3	T	A	7: 44,040,043 (GRCm39)	V92E	possibly damaging	Het
Them7	A	G	2: 105,209,153 (GRCm39)	T158A	probably benign	Het
Utp14b	G	A	1: 78,643,118 (GRCm39)	D339N	probably damaging	Het
Vars1	T	C	17: 35,235,214 (GRCm39)	F1259L	probably benign	Het
Vmn1r115	A	C	7: 20,578,555 (GRCm39)	V119G	possibly damaging	Het
Zc3h12a	C	T	4: 125,014,166 (GRCm39)	R293H	probably damaging	Het
Zfp638	A	T	6: 83,956,170 (GRCm39)	E1592D	probably damaging	Het

Other mutations in Pdk2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00786:Pdk2	APN	11	94,922,761 (GRCm39)	missense	probably benign
IGL01489:Pdk2	APN	11	94,922,848 (GRCm39)	critical splice acceptor site	probably null
IGL01538:Pdk2	APN	11	94,918,111 (GRCm39)	missense	probably damaging	1.00
IGL02057:Pdk2	APN	11	94,919,324 (GRCm39)	missense	probably benign	0.00
IGL02439:Pdk2	APN	11	94,930,323 (GRCm39)	unclassified	probably benign
IGL02539:Pdk2	APN	11	94,923,321 (GRCm39)	missense	probably benign	0.05
IGL02551:Pdk2	APN	11	94,919,412 (GRCm39)	missense	probably benign	0.01
B5639:Pdk2	UTSW	11	94,923,324 (GRCm39)	missense	possibly damaging	0.57
R0063:Pdk2	UTSW	11	94,923,306 (GRCm39)	missense	probably benign
R0063:Pdk2	UTSW	11	94,923,306 (GRCm39)	missense	probably benign
R0864:Pdk2	UTSW	11	94,918,759 (GRCm39)	missense	probably damaging	1.00
R1435:Pdk2	UTSW	11	94,922,721 (GRCm39)	missense	probably damaging	1.00
R1704:Pdk2	UTSW	11	94,919,376 (GRCm39)	missense	possibly damaging	0.75
R2114:Pdk2	UTSW	11	94,918,088 (GRCm39)	missense	probably damaging	1.00
R2566:Pdk2	UTSW	11	94,918,028 (GRCm39)	splice site	probably null
R3613:Pdk2	UTSW	11	94,918,072 (GRCm39)	missense	probably benign	0.39
R4259:Pdk2	UTSW	11	94,931,970 (GRCm39)	missense	probably benign	0.17
R5051:Pdk2	UTSW	11	94,919,598 (GRCm39)	missense	probably benign	0.29
R5055:Pdk2	UTSW	11	94,930,242 (GRCm39)	missense	probably benign	0.18
R5457:Pdk2	UTSW	11	94,919,408 (GRCm39)	missense	probably damaging	0.98
R5512:Pdk2	UTSW	11	94,930,292 (GRCm39)	missense	probably damaging	1.00
R5687:Pdk2	UTSW	11	94,919,851 (GRCm39)	unclassified	probably benign
R6328:Pdk2	UTSW	11	94,930,228 (GRCm39)	missense	possibly damaging	0.72
R6675:Pdk2	UTSW	11	94,919,568 (GRCm39)	missense	probably benign	0.00
R7658:Pdk2	UTSW	11	94,919,791 (GRCm39)	missense	probably damaging	1.00
R8436:Pdk2	UTSW	11	94,930,259 (GRCm39)	missense	probably damaging	1.00
R8809:Pdk2	UTSW	11	94,923,339 (GRCm39)	missense	probably damaging	1.00
R9260:Pdk2	UTSW	11	94,930,260 (GRCm39)	missense	probably damaging	1.00
Z1176:Pdk2	UTSW	11	94,918,744 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- CATCTGCTGGGAATGGATCACC -3'
(R):5'- TACACTTAACAGGGTATGATGTGG -3'

Sequencing Primer
(F):5'- GAATGGATCACCTTCTGACCTGG -3'
(R):5'- TGCTGTAAGGTGCAGAAGCTC -3'

Posted On

2016-10-24